S53N (p.Ser53Asn) variant of TSHR (Thyrotropin receptor)
S53N (p.Ser53Asn) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- NCI-TCGA Cosmic COSV9999
- cosmic curated COSV99992
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.10
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.98
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available